Endocrine Abstracts

We made a retrospective study of X monosomy cases identified in our laboratory in the last 10 years. The aim of study was to establish a correlation between different forms of X monosomy, and age for confirmation of cytogenetic diagnosis. Between 2010 and 2019 we confirmed 81 cases of Turner syndrome in our laboratory. We found different forms of X monosomy and the most frequent was X homogenous X monosomy. We found 24 cases (29.62%) of X homogenous monosomy (median age of diagnosis–7 years) 14 cases (17.28%) of 45, X/46, X, I (Xq) (median age of diagnosis–14 years) 11 cases (13.58%) of with deletions on chromosome X (median age of diagnosis–10.5 years) 9 cases (11.11%) with 45, X/46, XX (median age of diagnosis–25 years) 9 cases (11.11%) with complex forms of chromosomal mosaics that included a line with X monosomy (median age of diagnosis–23 years) 7 cases (8.64%) with ring chromosome X (median age of diagnosis–8.75 years) 3 cases (3.7%) with X monosomy and the presence of a marker chromosome (median age of diagnosis–3.75 years) and 5 cases (6.17%) with other unbalanced structural anomalies of chromosome X (median age of diagnosis–6.25 years). We confirmed the diagnosis at a small age in cases with X homogenous monosomy, ring chromosome X or a marker chromosome. For example, in 10 of 24 cases with X homogenous monosomy the age for confirmation of diagnosis was before 1 year. In opposition, the presence mosaic forms were correlated with a high median age (more than 20 years). The chromosomal analysis in our cohort was imposed by different clinical suppositions: Turner syndrome–58 cases (71.6%) amenorrhea or feminine sterility–8 cases (9.87%) short stature–7 cases (8.64%) plurimalformative syndrome–4 cases (4.93%) loss of pregnancies–2 cases (2.46%) and intersexuality–2 cases (2.46%). A feature or a complete pattern of Turner syndrome was discovered in 73 cases (90.01%) and such situation was identified in all cases with homogenous X monosomy or ischromosome X. Our study confirmed the importance of a good collaboration between geneticists and endocrinologists in management of Turner syndrome. Also, we confirmed the importance of cytogenetic analyses that are mandatory in management of Turner syndrome.